Alterations in Purine Metabolism in Cultured Fibroblasts with HGPRT Deficiency and with PRPP Synthetase Superactivity

  • Esther Zoref-Shani
  • Oded Sperling
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 122B)


Within the last decade, two different inborn enzyme abnormalities were identified as causing excessive purine production in man: deficiency of hypoxanthine-guanine phosphoribosyltransferase(HGPRT) whether partial (1) or complete (2), and superactivity of 5-phospho-ribosyl-1-pyrophosphate (PRPP)synthetase, due to feedback-resistance (3–5) or various other molecular alterations. The finding of excessive de novo purine nucleotide synthesis in these enzyme abnormalities has contributed markedly to the understanding of the normal metabolism of purines in man, mainly in revealing the importance of HGPRT activity and of PRPP availability in the regulation of de novo purine synthesis.


Guanine Nucleotide Purine Metabolism Nucleotide Synthesis Purine Synthesis Purine Derivative 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Plenum Press, New York 1980

Authors and Affiliations

  • Esther Zoref-Shani
    • 1
    • 2
  • Oded Sperling
    • 1
    • 2
  1. 1.Department of Chemical PathologyTel-Aviv University Medical SchoolTel-ShashomerIsrael
  2. 2.Beilinson Medical CenterRogoff-Wellcome Medical Research InstitutePetah-TikvaIsrael

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